PubRank

D E Hale

Author PubWeight™ 64.26‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A quantitative scale of acanthosis nigricans. Diabetes Care 1999 1.99
2 Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res 1983 1.91
3 Diabetes risk factors in low-income Mexican-American children. Diabetes Care 1999 1.82
4 Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999 1.76
5 Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res 1985 1.75
6 An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion. Anal Biochem 1990 1.74
7 Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol 1996 1.66
8 A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr 1994 1.59
9 Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res 1985 1.56
10 Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci U S A 1995 1.50
11 Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N Engl J Med 1988 1.49
12 Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 1998 1.46
13 Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology 1994 1.41
14 Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 1991 1.38
15 The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci U S A 1995 1.38
16 The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet 1997 1.36
17 Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency. Pediatr Res 1986 1.28
18 Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. J Clin Invest 1988 1.25
19 Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death. J Inherit Metab Dis 1992 1.21
20 Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med 1988 1.19
21 Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome. J Clin Invest 1988 1.16
22 Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Hepatology 1987 1.11
23 Growth hormone insufficiency associated with haploinsufficiency at 18q23. Am J Med Genet 1997 1.09
24 Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele. Pediatr Res 1996 1.07
25 Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1995 1.05
26 New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet 1991 1.04
27 Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings. Eur J Pediatr 1990 1.01
28 Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency. J Inherit Metab Dis 1992 1.00
29 Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 1991 0.98
30 Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 1992 0.97
31 Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q. Hum Genet 1999 0.95
32 Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol 1991 0.94
33 Growth hormone deficiency associated in the 18q deletion syndrome. Am J Med Genet 1997 0.94
34 Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 1991 0.93
35 Ca2+ responses to interleukin 1 and tumor necrosis factor in cultured human skin fibroblasts. Possible implications for Reye syndrome. J Clin Invest 1991 0.93
36 Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 1992 0.92
37 Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death. Lancet 1987 0.89
38 Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes. Hum Genet 2000 0.86
39 Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder. J Inherit Metab Dis 1991 0.85
40 A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr 1993 0.84
41 Progress in Reye syndrome: epidemiology, biochemical mechanisms and animal models. Dig Dis 1989 0.84
42 Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1995 0.84
43 Cardiovascular risk factors in multi-ethnic middle school students: the HEALTHY primary prevention trial. Pediatr Obes 2012 0.84
44 Comparison of post-mortem urinary and vitreous humour organic acids. Ann Clin Biochem 1992 0.83
45 Genetic disorders of mitochondrial fatty acid oxidation. Curr Opin Pediatr 1994 0.82
46 Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone. Pediatr Neurol 1995 0.82
47 Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter. Clin Cardiol 1996 0.81
48 Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1993 0.81
49 Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. Pediatrics 1991 0.80
50 A survey of acute complications associated with endotracheal intubation. Cleve Clin Q 1968 0.80
51 Postmortem recognition of fatty acid oxidation disorders. Pediatr Pathol 1991 0.80
52 Azelaic and pimelic acids: metabolic intermediates or artefacts? J Inherit Metab Dis 1992 0.79
53 Medium chain acyl-coenzyme A dehydrogenase deficiency. N J Med 1992 0.79
54 Developmental changes in the adenine nucleotide translocase in the guinea pig. J Biol Chem 1984 0.78
55 Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics 1987 0.78
56 Systemic carnitine deficiency simulating Reye syndrome. J Pediatr 1984 0.78
57 A genetic defect in carnitine transport causing primary carnitine deficiency. Prog Clin Biol Res 1990 0.78
58 Expression and characterization of human mutant (glutamic acid304) medium-chain acyl-coenzyme A dehydrogenase in mammalian cells. Pediatr Res 1993 0.78
59 Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr Res 1993 0.78
60 Localization of a major susceptibility locus influencing preterm birth. Mol Hum Reprod 2013 0.77
61 When do gut flora in the newborn produce 3-phenylpropionic acid? Implications for early diagnosis of medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem 1992 0.77
62 Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1992 0.76
63 Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1990 0.76
64 Molecular, morphometric and functional analyses demonstrate that the growth hormone deficient little mouse is not hypomyelinated. Brain Res Dev Brain Res 1999 0.75
65 Decreased fasting free fatty acids with L-carnitine in children with carnitine deficiency. Pediatr Res 1988 0.75
66 Metabolic disorder possible cause of Reye's syndrome. Am J Dis Child 1986 0.75
67 Familial systemic carnitine deficiency. Arch Neurol 1985 0.75
68 The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene. Prog Clin Biol Res 1992 0.75
69 Medium-chain acyl-CoA dehydrogenase deficiency. Am Fam Physician 1989 0.75
70 Identification of urinary metabolites of (+/-)-2-(p-isobutylphenyl)propionic acid (Ibuprofen) by routine organic acid screening. Clin Chim Acta 1992 0.75
71 Long-chain acyl-CoA profiles in cultured fibroblasts from patients with defects in fatty acid oxidation. Biochem Mol Med 1995 0.75
72 Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death. Prog Clin Biol Res 1992 0.75
73 The rise and fall of soda lime. Anesth Analg 1967 0.75
74 Medium-chain acyl-CoA dehydrogenase deficiency. Prog Clin Biol Res 1990 0.75
75 Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1993 0.75